Linked Data
ClinVar Variation Id:
140992
dbSNP Id:
rs587781422
MyVariant Identifiers:
chr13:g.32954282_32954283delinsTA (hg19)
chr13:g.32380145_32380146delinsTA (hg38)
PubMed:
PMID:12759930
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.32380145_32380146delinsTA , CM000675.2:g.32380145_32380146delinsTA | GRCh38 |
| NC_000013.10:g.32954282_32954283delinsTA , CM000675.1:g.32954282_32954283delinsTA | GRCh37 |
| NC_000013.9:g.31852282_31852283delinsTA | NCBI36 |
| NG_012772.3:g.69666_69667delinsTA , LRG_293:g.69666_69667delinsTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000470094.2:c.9256_9256+1delinsTA | ||
| ENST00000528762.2:c.*623_*623+1delinsTA | ||
| ENST00000530893.7:c.8887_8887+1delinsTA | ||
| ENST00000665585.2:c.*818_*818+1delinsTA | ||
| ENST00000666593.2:c.9256_9256+1delinsTA | ||
| ENST00000700202.2:c.9205_9205+1delinsTA | ||
| ENST00000700202.1:c.1672_1672+1delinsTA | ||
| ENST00000700203.1:n.1383_1383+1delinsTA | ||
| ENST00000380152.8:c.9256_9256+1delinsTA | ||
| ENST00000544455.6:c.9256_9256+1delinsTA | ||
| ENST00000614259.2:c.9264_9264+1delinsTA | ||
| ENST00000665585.1:c.2134_2134+1delinsTA | ||
| ENST00000666593.1:c.139_139+1delinsTA | ||
| ENST00000680887.1:c.9256_9256+1delinsTA | ||
| ENST00000380152.7:c.9256_9256+1delinsTA | ||
| ENST00000470094.1:c.213_213+1delinsTA | ||
| ENST00000544455.5:c.9256_9256+1delinsTA | ||
| NM_000059.3:c.9256_9256+1delinsTA , LRG_293t1:c.9256_9256+1delinsTA | ||
| XM_011535203.1:c.9256_9256+1delinsTA | ||
| XM_011535204.1:c.9160_9160+1delinsTA | ||
| NM_000059.4:c.9256_9256+1delinsTA |